1. Zou, Jing, Zhao, Zikai, Zhang, Guoping, Zhang, Qing, Pyykkö, Ilmari. 2022. MEFV, IRF8, ADA, PEPD, and NBAS gene variants and elevated serum cytokines in a patient with unilateral sporadic Meniere's disease and vascular congestion over the endolymphatic sac. In Journal of otology, 17, 175-181. doi:10.1016/j.joto.2022.03.001. https://pubmed.ncbi.nlm.nih.gov/35847575/
2. Hua, Yi, Cui, Di, Han, Lin, Gao, Feng, Yuan, Zhefeng. 2022. A novel SCN9A gene variant identified in a Chinese girl with paroxysmal extreme pain disorder (PEPD): a rare case report. In BMC medical genomics, 15, 159. doi:10.1186/s12920-022-01302-z. https://pubmed.ncbi.nlm.nih.gov/35840956/
3. Ura, Hiroki, Togi, Sumihito, Ozaki, Mamoru, Hatanaka, Hisayo, Niida, Yo. 2023. Establishment of a human induced pluripotent stem cell line, KMUGMCi007-A, from a patient with prolidase deficiency (PD) bearing homozygous in-frame mutation in the PEPD gene. In Stem cell research, 69, 103075. doi:10.1016/j.scr.2023.103075. https://pubmed.ncbi.nlm.nih.gov/37023562/
4. Yang, Lu, Li, Yun, Bhattacharya, Arup, Zhang, Yuesheng. 2017. PEPD is a pivotal regulator of p53 tumor suppressor. In Nature communications, 8, 2052. doi:10.1038/s41467-017-02097-9. https://pubmed.ncbi.nlm.nih.gov/29233996/
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